Humanity's Code. Sponsored by: Cincinnati Children's
The human genome is vastly complex. So we use metaphors to help describe it in ways that are easier to understand: A blueprint. A recipe. A computer program or The Holy Grail. But when it comes to how our genes really work, none of those descriptions are accurate.
So to me, all of these metaphors share the same shortcoming: they render the genes as the commander in chief. That is, genes determine the outcome. And genes surely play an important role, but they are not what's calling the shots. The way biology works is that it's always, always an interaction, an interaction between many parts. Genes are one of those parts.
So, rather than looking to DNA as a source of absolute answers, we can use the data from our own individual genomes as guideposts to help make better decisions for medical care.
What does a patient want to know when they're first diagnosed with a disease, and they're thinking about a therapeutic option? They want to know. "What's going to happen to me?" Right? What if I take a drug A versus drug B?
And the data is staggering how many people a year actually die in the hospital from unintended side effects of medicine? It is at times the fourth leading cause of death in the hospital.
Much like a fingerprint, your DNA is unique to you. And many of the differences within your genes can give an idea of how your own body, organs and cells might react to different medications.
Often trying to find that medication is like trying to find a needle in a haystack. And what genetics does, is that it actually removes some of that hay, which makes finding the needle easier. It doesn't actually tell you which medication will work. It actually tells you which medications are less likely to work.
So, in 2006, AssureX Health was formed, driven by patented technology invented by Cincinnati Children's and the Mayo Clinic. This technology uses the data from genetic markers to help determine the right medications for patients.
Sometimes, based on their experience, doctors can get it right. About half the times a patient begins to get better on the medication that's selected. But the other half of the time, the patient doesn't.
When you walk into a doctor's office there may be five, ten, in our case, fifty-five different medications a doctor could choose from. And they don't know which medication is most appropriate for you, or which one you should avoid that might cause adverse events.
And it can be very difficult for the patient and the clinician.
And it takes the sort of "well let's try this" guess work out of it, and gives us a really firm basis for therapeutic decisions.
When it comes to our health, doctors can use the data to get better at managing the potential of you having an adverse reaction to a medication.
How can we use our DNA to help? Picking medications is a great place to start, because we know about the medications and we know what pathways they stimulate and we know how they get broken down by the body. So we know what genes to look at. So it's a low hanging fruit, but it's a fruit that's going to impact millions and millions of patients right away.
Now, the way doctors make decisions when prescribing medicine is changing, thanks to our own personal genetic information.
So a patient in their doctor's office can perform their own cheek swab. We then process that DNA and within 36 hours, we present that information in a very simple way. Green, yellow, red. Medications in the green category are most genetically appropriate for that patient. Red medications are the opposite, and yellow medications are in the middle.
The doctor can pick one of these green or yellow medications, pick the right dose and phone it into the pharmacy. So on Monday, you came in the doctor's office. By Wednesday, you'll have a precision prescription for you.
What has really propelled it has been the technology for gene sequencing that now has reduced the cost. It is a technology that is, within the grasp of many insurers and insurance companies.
Precision medicine tests like this have shown that patients are more than twice as likely to respond positively to a medication they take the first time, compared to those who don't take the test at all.
And so when we give a genetic result, it's not a perfect result. It says something is less likely to work, or something is more likely to work. You know often times we look at things like cancer and what we die of, what's more important to me, is what we live with every single day, for the 50 to 80 to 90 years that we hope to live for.
These simple, low-cost tests have already helped over half a million patients.
The key is to recognize again, that this is the start of a discussion. And if you're seeing a psychiatrist, or you're seeing a family practice doctor, or you're seeing an internist, ask the question: "Am I on a drug where there's a genetic contribution?" If you're getting success and your life is good, you don't have to ask the question. But if you're not getting success, and you're going drug after drug, and you're just having side-effects, or not getting success with the medicine, it empowers you try and look for another reason on why am I not getting success with my medicines?
So we have a long way to go, but doctors are starting to realize now, that this is becoming the new standard of care.
Remember, drugs fail. People don't fail.
Dosing medicine accurately is already difficult for adults. So what happens when the patient is too young to talk? Now, this innovative work is giving babies a voice. Precision medicine can now help pre-term babies in need of intensive care by giving doctors a guide for more accurate dosing of pain medications.
So I think from a clinical standpoint, the biggest challenge is there is no one-size-fits-all for each baby. And in a very complex system, you having an extra tool really helps individualize dosing for that baby.
And so instead of a reactive system—we're very reactive in medicine—we can make a proactive system because once you see that the patient is deteriorating, or something is changing, you can anticipate. If you can anticipate, you can intervene before the bad stuff happens. I think this type of technology will improve our ability to truly do precision dosing, individualized precision dosing.
Doing what we can to take care of our sickest and most vulnerable patients in the hospital, really helping their families, and then getting these babies home to them, to their parents and families is really our biggest priority.
Right now, precision medicine already shows great promise to positively affect our health, from the moment of birth through end of life. And far into the future, scientists will continue to find even more ways to transform medicine by mining ever deeper into Humanity's Code.